Metachromatic leukodystrophy (MLD) is a rare autosomal recessive disorder caused by mutations of the arylsulfatase A ( ARSA) gene. We have investigated more than fifty MLD patients using allele-specific PCR assays to detect the pseudodeficiency (PD) allele and several common MLD mutations, followed
β¦ LIBER β¦
Identification of seven novel mutations associated with metachromatic leukodystrophy
β Scribed by Maria Luiza Barth; Anthony Fensom; Ann Harris
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 639 KB
- Volume
- 6
- Category
- Article
- ISSN
- 1059-7794
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